| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636706C>T | CA119184 | MYOC,MYOCOS | c.734G>A (p.Cys245Tyr) c.235-1924C>T (n.235-1924C>T) c.*72G>A (n.*72G>A) | ClinVar dbSNP |
| 1 | g.171636706C= | CA1140886915 | MYOC,MYOCOS | c.734G= (p.Cys245=) c.235-1924C= (n.235-1924C=) c.*72G= (n.*72G=) | dbSNP |